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DOI 10.1093/rheumatology/kem315

Медицинская библиотека · Annals of clinical and laboratory science · 2017

Whole Exome Sequencing Identifies a Novel Mutation in the PITX3 Gene, Causing Autosomal Dominant Congenital Cataracts in a Chinese Family.

Liu Hui, Liu Hankui, Tang Junxiang, Lin Qiongfen, Sun Yuxiu, Wang Chaohong, Yang Huanming, Khan Muhammad Riaz, Peerbux Mohamud Walid, Ahmad Sohail, Bukhari Ihtisham, Zhu Jiansheng

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Аннотация

OBJECTIVES

To quantify the extent of inflammation in psoriatic dactylitis and to examine the relationship between clinical and magnetic resonance imaging (MRI) data in both tender and non-tender dactylitis.

METHODS

Seventeen patients with psoriatic dactylitis underwent clinical assessment for 6 months after change of treatment, usually to methotrexate. Measures of dactylitis included the Leeds Dactylitis Index, the assessment tool used in the Infliximab in Psoriatic Arthritis Clinical Trial (IMPACT), a simple count of tender dactlylitic digits and a count of all dactylitic digits, both tender and non-tender. MRI scans of the affected hand or foot were performed before and after treatment using a 1.5T Siemen's scanner pre- and post-contrast.

RESULTS

All patients improved clinically, as did their respective dactylitis scores and MRI images. The findings on MRI in both dactylitic and non-dactylitic digits were profound and widespread. The difference between tender and non-tender dactylitis was quantitative rather than qualitative. Synovitis and soft-tissue oedema were the most frequent abnormalities being present in 69% of tender dactylitic digits but bone oedema and flexor tenosynovitis were also frequently seen. Soft-tissue oedema was circumferential and enhancing and not limited to association with the flexor or extensor tendons. None of the clinical indices of dactylitis showed a close relationship to the extent of MRI abnormalities.

CONCLUSIONS

MRI images demonstrate widespread abnormalities in digits of people with psoriatic arthritis. Tender dactylitic digits have more abnormalities than other digits but the relationship between clinical and MRI scores is not strong.

Для цитирования: Liu Hui, Liu Hankui, Tang Junxiang, Lin Qiongfen, Sun Yuxiu, Wang Chaohong, Yang Huanming, Khan Muhammad Riaz, Peerbux Mohamud Walid, Ahmad Sohail, Bukhari Ihtisham, Zhu Jiansheng. Whole Exome Sequencing Identifies a Novel Mutation in the PITX3 Gene, Causing Autosomal Dominant Congenital Cataracts in a Chinese Family.. Annals of clinical and laboratory science. 2017. DOI: 10.1093/rheumatology/kem315.

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